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  • Title: Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
    Author: Meaburn KJ, Levy N, Toniolo D, Bridger JM.
    Journal: Biochem Soc Trans; 2005 Dec; 33(Pt 6):1438-40. PubMed ID: 16246140.
    Abstract:
    Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins. In the last decade, a number of diseases associated with tissue degeneration and premature aging have been linked with mutations in lamin A or emerin. These are termed laminopathies, with mutations in emerin causing Emery-Dreifuss muscular dystrophy. Despite highly aberrant nuclear distributions of A-type lamins and emerin in lymphoblastoid cell lines derived from patients with emerin or lamin A mutations, little or no change in chromosome location was detected.
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